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口腔和下颌骨重复:一种罕见的先天性颅面畸形。

Duplication of the oral cavity and mandible: a rare congenital craniofacial anomaly.

机构信息

College of Medicine, MUSC, Charleston, South Carolina, USA.

Otolaryngology - Head & Neck Surgery, MUSC, Charleston, South Carolina, USA

出版信息

BMJ Case Rep. 2020 May 19;13(5):e233799. doi: 10.1136/bcr-2019-233799.

Abstract

A newborn girl was referred to the otolaryngology service after prenatal imaging showed a right mandibular mass. Physical examination revealed a 1-2 cm mass along the right mandible with the appearance of a vestigial oral cavity. Tissue resembling the vermillion and primitive tongue appeared innervated and moved in conjunction with oral movements. MRI and CT of the mandible after birth confirmed a partially ossified soft tissue mass of the right mandibular body, containing unerupted teeth. She was taken to the operating room at 6 months of age for mass excision and reconstruction. Postoperatively, she healed well and was feeding without difficulty. Craniofacial duplication, including duplication of stomatodeal structures or diprosopus, is a rare condition with a variety of phenotypes. In the case of suspected craniofacial duplication, associated syndromes should be ruled out and appropriate imaging employed to determine the extent of involvement of adjacent structures, which will ultimately guide surgical planning.

摘要

一名女婴因产前影像学检查显示右侧下颌骨肿块而被转至耳鼻喉科就诊。体格检查发现右侧下颌骨有 1-2cm 的肿块,外观呈残余口腔。类似于唇红和原始舌的组织看起来有神经支配,并随口腔运动一起移动。出生后的下颌骨 MRI 和 CT 证实右侧下颌体有部分骨化的软组织肿块,其中含有未萌出牙。她在 6 个月大时被送往手术室进行肿块切除和重建。术后,她恢复良好,进食无困难。颅面重复,包括口腔结构的重复或双面畸形,是一种罕见的疾病,具有多种表型。在疑似颅面重复的情况下,应排除相关综合征,并采用适当的影像学方法确定相邻结构的受累程度,这最终将指导手术规划。

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本文引用的文献

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[Partial facial duplication (a rare diprosopus): Case report and review of the literature].[部分面部重复(一种罕见的双面畸形):病例报告及文献综述]
Rev Stomatol Chir Maxillofac Chir Orale. 2015 Dec;116(6):376-9. doi: 10.1016/j.revsto.2015.09.004. Epub 2015 Nov 12.
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Craniofacial duplication: a case report.颅面重复畸形:一例报告
J Clin Diagn Res. 2013 Sep;7(9):2025-6. doi: 10.7860/JCDR/2013/5658.3395. Epub 2013 Sep 10.
6
Partial craniofacial duplication: a review of the literature and case report.部分颅面部重复畸形:文献综述与病例报告
J Craniomaxillofac Surg. 2014 Jun;42(4):290-6. doi: 10.1016/j.jcms.2013.05.016. Epub 2013 Aug 19.
7
Pituitary duplication: a rare cause of precocious puberty.垂体重复:性早熟的罕见病因。
Childs Nerv Syst. 2011 Jul;27(7):1157-60. doi: 10.1007/s00381-011-1443-8. Epub 2011 Apr 12.
8
Duplication of lower lip and mandible--a rare diprosopus.下唇与下颌重复——一种罕见的双面畸形。
Int J Pediatr Otorhinolaryngol. 2011 Jan;75(1):131-3. doi: 10.1016/j.ijporl.2010.10.004. Epub 2010 Nov 9.

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